Unique variants in gene GPHN

Information The variants shown are described using the NM_020806.4 transcript reference sequence.

44 entries on 1 page. Showing entries 1 - 44.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. 3 - c.26C>G r.(?) p.(Thr9Ser) - likely benign g.66975271C>G g.66508553C>G GPHN(NM_001024218.1):c.26C>G (p.(Thr9Ser)), GPHN(NM_020806.4):c.26C>G (p.T9S) - GPHN_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Utrecht, VKGL-NL_Leiden
?/. 1 - c.86A>G r.(?) p.(Asn29Ser) - VUS g.67147846A>G g.66681128A>G GPHN(NM_020806.4):c.86A>G (p.N29S) - GPHN_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.127G>T r.(?) p.(Val43Leu) - likely benign g.67147887G>T g.66681169G>T GPHN(NM_020806.4):c.127G>T (p.V43L) - GPHN_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.143+27988G>A r.(=) p.(=) - benign g.67175891G>A g.66709173G>A GPHN(NM_020806.4):c.143+27988G>A - GPHN_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.144-147T>C r.(=) p.(=) - likely benign g.67243035T>C g.66776317T>C GPHN(NM_020806.4):c.144-147T>C - GPHN_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.202-78A>G r.(=) p.(=) - likely benign g.67291114A>G g.66824396A>G GPHN(NM_020806.4):c.202-78A>G - GPHN_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.202-2A>G r.spl? p.? - pathogenic g.67291190A>G g.66824472A>G GPHN(NM_020806.4):c.202-2A>G - GPHN_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.271G>A r.(?) p.(Ala91Thr) - VUS g.67291261G>A g.66824543G>A GPHN(NM_020806.4):c.271G>A (p.A91T) - GPHN_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.390-5T>C r.spl? p.? - likely benign g.67382715T>C g.66915998T>C GPHN(NM_020806.4):c.390-5T>C - GPHN_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.457-109T>C r.(=) p.(=) - likely benign g.67389274T>C g.66922557T>C GPHN(NM_020806.4):c.457-109T>C - GPHN_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.633A>G r.(?) p.(Gln211=) - likely benign g.67389559A>G g.66922842A>G GPHN(NM_020806.4):c.633A>G (p.Q211=) - GPHN_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.729+69dup r.(=) p.(=) - benign g.67389724dup g.66923007dup GPHN(NM_020806.4):c.729+69dupT - GPHN_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.730-45G>A r.(=) p.(=) - likely benign g.67390866G>A g.66924149G>A GPHN(NM_020806.4):c.730-45G>A - GPHN_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.751C>T r.(?) p.(Pro251Ser) - likely benign g.67390932C>T g.66924215C>T GPHN(NM_020806.4):c.751C>T (p.P251S) - GPHN_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.800A>G r.(?) p.(Asn267Ser) - likely benign g.67390981A>G g.66924264A>G GPHN(NM_020806.4):c.800A>G (p.N267S) - GPHN_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Groningen
?/. 1 - c.828+1G>A r.spl? p.? - VUS g.67391010G>A - GPHN(NM_020806.4):c.828+1G>A - GPHN_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.963+10G>A r.(=) p.(=) - benign g.67432052G>A g.66965335G>A GPHN(NM_020806.4):c.963+10G>A - GPHN_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.963+164A>G r.(=) p.(=) - likely benign g.67432206A>G g.66965489A>G GPHN(NM_020806.4):c.963+164A>G - GPHN_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.963+20437dup r.(=) p.(=) - likely benign g.67452479dup g.66985762dup GPHN(NM_020806.4):c.963+20437dupT - GPHN_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. 1 - c.963+20575del r.(=) p.(=) - benign g.67452617del g.66985900del GPHN(NM_020806.4):c.963+20575delT - GPHN_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.964-34A>G r.(=) p.(=) - likely benign g.67490316A>G g.67023599A>G GPHN(NM_020806.4):c.964-34A>G - GPHN_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1142G>A r.(?) p.(Arg381Gln) - VUS g.67525501G>A g.67058784G>A GPHN(NM_020806.4):c.1142G>A (p.R381Q) - GPHN_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1238-31T>C r.(=) p.(=) - likely benign g.67567542T>C g.67100825T>C GPHN(NM_020806.4):c.1238-31T>C - GPHN_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1293+16del r.(=) p.(=) - likely benign g.67567644del g.67100927del GPHN(NM_020806.4):c.1293+16delC - GPHN_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1293+180T>C r.(=) p.(=) - likely benign g.67567808T>C g.67101091T>C GPHN(NM_020806.4):c.1293+180T>C - GPHN_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1294-187C>T r.(=) p.(=) - likely benign g.67576670C>T g.67109953C>T GPHN(NM_020806.4):c.1294-187C>T - GPHN_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1388C>G r.(?) p.(Thr463Ser) - VUS g.67576951C>G g.67110234C>G GPHN(NM_001024218.1):c.1289C>G (p.(Thr430Ser)) - GPHN_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1414-15C>T r.(=) p.(=) - likely benign g.67578563C>T g.67111846C>T GPHN(NM_020806.4):c.1414-15C>T - GPHN_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1480G>T r.(?) p.(Gly494Cys) - VUS g.67579742G>T - GPHN(NM_020806.4):c.1480G>T (p.G494C) - GPHN_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.1576G>A r.(?) p.(Val526Ile) - VUS g.67579838G>A g.67113121G>A GPHN(NM_001024218.1):c.1477G>A (p.(Val493Ile)) - GPHN_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1627-63T>C r.(=) p.(=) - likely benign g.67588910T>C g.67122193T>C GPHN(NM_020806.4):c.1627-63T>C - GPHN_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1699A>G r.(?) p.(Ile567Val) - VUS g.67589045A>G - GPHN(NM_020806.4):c.1699A>G (p.I567V) - chr14_004033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1749-152G>T r.(=) p.(=) - likely benign g.67609927G>T g.67143210G>T GPHN(NM_020806.4):c.1749-152G>T - GPHN_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1749-6T>C r.(=) p.(=) - likely benign g.67610073T>C g.67143356T>C GPHN(NM_020806.4):c.1749-6T>C - GPHN_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.1797T>C r.(?) p.(Asp599=) - likely benign g.67610127T>C g.67143410T>C GPHN(NM_020806.4):c.1797T>C (p.D599=) - GPHN_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_AMC
-/. 1 - c.1910+108C>T r.(=) p.(=) - benign g.67626313C>T g.67159596C>T GPHN(NM_020806.4):c.1910+108C>T - GPHN_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1910+118del r.(=) p.(=) - likely benign g.67626323del g.67159606del GPHN(NM_020806.4):c.1910+118delA - GPHN_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1971A>C r.(?) p.(Leu657=) - likely benign g.67631939A>C g.67165222A>C GPHN(NM_020806.4):c.1971A>C (p.L657=) - GPHN_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1976-143G>A r.(=) p.(=) - benign g.67635507G>A g.67168790G>A GPHN(NM_020806.4):c.1976-143G>A - GPHN_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 - c.2079+1G>A r.spl? p.? - pathogenic g.67635754G>A g.67169037G>A GPHN(NM_020806.4):c.2079+1G>A - GPHN_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 2 - c.2176+9T>C r.(=) p.(=) - benign g.67646400T>C g.67179683T>C GPHN(NM_020806.4):c.2176+9T>C - GPHN_000027 VKGL data sharing initiative Nederland, 5 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs74939746 CLASSIFICATION record, Germline - 5/2793 individuals - - - VKGL-NL_Utrecht, Mohammed Faruq
?/. 1 - c.2237C>T r.(?) p.(Pro746Leu) - VUS g.67647581C>T - - - GPHN_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.*427C>T r.(=) p.(=) - benign g.67648081C>T g.67181364C>T GPHN(NM_020806.4):c.*427C>T - GPHN_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*760A>G r.(=) p.(=) - likely benign g.67648414A>G g.67181697A>G GPHN(NM_020806.4):c.*760A>G - GPHN_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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